{"orpha":99887,"name":"Acute megakaryoblastic leukemia in children with Down syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute megakaryoblastic leukemia in children with trisomy 21","DS-AMKL in children with Down syndrome","DS-AMKL in children with trisomy 21"],"definition":null,"note":"This disease is described under Acute megakaryoblastic leukemia","url":"https://raremap.alftech.space/d/ORPHA-99887/","orphanet_url":"https://www.orpha.net/en/disease/detail/99887","names":{"fr":{"name":"Leucémie aiguë mégacaryoblastique de l'enfant avec un syndrome de Down","synonyms":["Leucémie aiguë mégacaryoblastique de l'enfant avec trisomie 21"]},"de":{"name":"Akute megakaryoblastische Leukämie bei Kindern mit Down-Syndrom","synonyms":["Akute Megakaryoblasten-Leukämie bei Kindern mit Trisomie 21","DS-AMKL","DS-AMKL bei Kindern mit Trisomie 21"]},"es":{"name":"Leucemia megacarioblástica aguda en niños con síndrome de Down","synonyms":["LMCA-SD en niños con síndrome de Down","LMCA-SD en niños con trisomía 21","Leucemia megacarioblástica aguda en niños con trisomía 21"]},"it":{"name":"Leucemia megacarioblastica acuta nei bambini con sindrome di Down","synonyms":["DS-AMKL","DS-AMKL nei bambini con sindrome di Down","DS-AMKL nei bambini con trisomia 21","Leucemia megacarioblastica acuta nei bambini con trisomia 21"]},"nl":{"name":"Acute megakaryoblastische leukemie bij kinderen met syndroom van Down","synonyms":["Acute megakaryoblastaire leukemie bij kinderen met syndroom van Down","Acute megakaryoblastische leukemie bij kinderen met trisomie 21","DS-AMKL bij kinderen met syndroom van Down","DS-AMKL bij kinderen met trisomie 21"]},"pt":{"name":"Leucemia megacarioblástica aguda em crianças com síndrome Down","synonyms":["DS-AMKL em crianças com síndrome Down","DS-AMKL em crianças com trissomia 21","Leucemia megacarioblástica aguda em crianças com trissomia 21"]},"pl":{"name":"Ostra białaczka megakarioblastyczna w zespole Downa","synonyms":["DS-AMKL","Ostra białaczka megakarioblastyczna u dzieci z zespołem Downa"]},"cs":{"name":"Akutní megakaryoblastická leukémie u Downova syndromu","synonyms":["DS-AMKL"]},"uk":{"name":"Гостра мегакаріобластна лейкемія у дітей із синдромом Дауна","synonyms":["Гостра мегакаріобластна лейкемія у дітей з трисомією 21","DS-AMKL у дітей із синдромом Дауна","DS-AMKL у дітей з трисомією 21"]},"zh":{"name":"唐氏综合征伴急性巨核细胞白血病","synonyms":["DS-AMKL"]},"tr":{"name":"Down sendromunda akut megakaryoblastik lösemi","synonyms":["DS-AMKL"]}},"xrefs":[{"source":"ICD-10","code":"C94.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.41","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"1267231647"},{"source":"MONDO","code":"0020526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":518,"name":"Acute megakaryoblastic leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"14636651[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}